scholarly journals Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Cuilan Hou ◽  
Junmin Zheng ◽  
Wei liu ◽  
Lijian Xie ◽  
Xiaomin Sun ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Artery ◽  
Molecular Mechanism ◽  
Protein Level ◽  
Congenital Heart ◽  
Artery Stenosis ◽  
Pulmonary Artery Stenosis ◽  
Functional Component ◽  
Functional Changes

AbstractCongenital heart defects, one of the most common birth defects, affect approximately 1% of live birth globally and remain the leading cause of infant mortality in developed countries. Utilizing the pathogenicity score and inheritance mode from whole exome sequencing results, a heterozygous mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) in elastin (ELN) was identified among 6,440 variants in a female proband born with an atrial septal defect accompanied by pulmonary artery stenosis. Results of RT-PCR showed that the mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) did not affect the expression levels of ELN mRNA but increased protein level. The content of ELN truncate (functional component) was significantly lower in both the intracellular and extracellular compartments after mutation. These results indicate that the ELN mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) affected the protein truncate, which may be a functional component of ELN and play crucial roles for this pedigree. Here we report of an ELN heterozygous variant associated with congenital heart disease accompanied with pulmonary artery stenosis, which is less common. Based on our results, we speculate that this may be the main molecular mechanism underlying the mutation-led functional changes, and propose that the decrease of ELN protein level may cause this pedigree vascular abnormality, especially pulmonary artery stenosis, and reinforce the view that ELN insufficiency is the primary cause of these vascular lesions. This may be the main molecular mechanism underlying the mutation-led functional changes. Thus, systematic analysis not only enables us to better understand the etiology of this disease but also contributes to clinical and prenatal diagnosis.

scholarly journals On non-healing of the interventricular septum of the heart (Roger's disease)

1935 ◽  
Vol 31 (1) ◽  
pp. 27-35
Author(s):  
F. F. Piaid
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Pulmonary Artery ◽  
Congenital Heart ◽  
Septal Defect ◽  
Interventricular Septum ◽  
Artery Stenosis ◽  
Pulmonary Artery Stenosis

Simple uncomplicated forms of congenital heart disease in adults - pulmonary artery stenosis, non-healing of the Botall's duct - although they are a rarity, still studied more or less enough, and their lifelong recognition is not particularly difficult. Unfortunately, this cannot be said of another heart anomaly, a ventricular septal defect.

scholarly journals A rare case of two-chambered heart in an adult patient

2015 ◽  
Vol 96 (6) ◽  
pp. 1069-1073
Author(s):  
N A Mukhametzyanova ◽  
M R Valeeva
Keyword(s):  
Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Artery ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Artery Stenosis ◽  
Pulmonary Artery Stenosis ◽  
Univentricular Heart ◽  
Shortness Of Breath

Congenital heart diseases are third most prevalent congenital disorders right after congenital musculoskeletal and central nervous system disorders. Up to 30-35 thousand of children with congenital heart disease are born annually in USA, 20-22 thousand - in Russia, 320-350 children - in the Republic of Tatarstan. Univentricular heart is among rare and unique congenital heart disorders. The natural course of the disease is poor, with two thirds of patients passing away within the first year due to severe pulmonary hypertension, progressing heart failure, and severe hypoxia and heart arrhythmias. Prenatal influence of the disorder on hemodynamics is not significant, and babies are born with normal body weight and length. In most of the children, the disease is diagnosed within the first months after birth. If combined with pulmonary artery stenosis and transposition of the great vessels, clinical manifestations are associated with serous hypoxia and cyanosis. Intensive cyanosis is observed since birth, peripheral signs of hypoxia - phalangeal and nail deformities are seen early. Such children do not frequently have respiratory diseases, despite shortness of breath; there is no crackles in lungs. In the absence of pulmonary artery stenosis, the clinical picture reminds congenital heart disorder with big ventricular septal defect and left to right shunt with the expressed hypervolemia and moderate cyanosis, which becomes more severe while crying and at feeding. Children often have recurrent pneumonia and bronchitis, lag behind in physical development, they constantly have a shortness of breath and tachycardia, hepatomegaly occurs early. A clinical case of the patient with congenital heart disease (univentricular heart) and severe congestive heart failure is presented. The peculiarity of this case is the presence of the single atrium communicating through a common atrioventricular valve with a single ventricle, from which two main vessels begins with the aortic and pulmonary valves, as well as atypical long clinical course associated with heart arrhythmia and extensive cardiac remodeling.

scholarly journals Intraoperative Stenting of Pulmonary Artery Stenosis in Children With Congenital Heart Disease

2017 ◽  
Vol 104 (1) ◽  
pp. 190-196 ◽  
Author(s):  
Mathilde Meot ◽  
Bruno Lefort ◽  
Jean Marc El Arid ◽  
Nathalie Soulé ◽  
Julie Lothion-Boulanger ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Artery ◽  
Congenital Heart ◽  
Artery Stenosis ◽  
Pulmonary Artery Stenosis

Patient-Specific Three-Dimensional Computational Heart Modeling and Printing to Enhance Clinical Understandings and Treatment Planning: Congenital Recurrent Pulmonary Artery Stenosis and Transcatheter Pulmonary Valve Replacement

2020 ◽  
Author(s):  
Amanda C. Tenhoff ◽  
Varun Aggarwal ◽  
Rebecca Ameduri ◽  
Alex Deakyne ◽  
Tinen L. Iles ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Artery ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Three Dimensional ◽  
Patient Specific ◽  
Pulmonary Artery Stenosis ◽  
Three Dimensional Modeling ◽  
Dimensional Modeling

Abstract Advances in the surgical and interventional management of children with congenital heart disease has improved survival and outcomes. Each such patient is born with specific anatomical variations which call for detailed evaluations so to plan for appropriate patient-specific management. Significant progress has been made in commercially available two-dimensional imaging – i.e. echocardiogram, CT, and MRI – yet using such, three-dimensional anatomical details can be difficult to accurately represent. In addressing this concern, it has been shown that patient-specific three-dimensional modeling can be useful for interventional procedural or surgical planning [1]. Here we present two cases for which patient-specific anatomical three-dimensional modeling and printing were utilized for (1) the pre-sizing and placement of stents within a complex bifurcation pulmonary artery stenosis; and (2) evaluating the candidacy of the patient’s anatomy for a transcatheter pulmonary valve placement. Detailed within this technical brief are de-identified case information, workflows for model generations, and results regarding clinical usage. In conclusion, we found these patient-specific models to be an advantageous resource for treatment planning in these two pediatric congenital heart disease cases.

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